Rolph Pfundt
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Congenital heart defects research, RNA modifications and cancer
Most-Cited Works
- → Genome sequencing identifies major causes of severe intellectual disability(2014)1,130 cited
- → Refining analyses of copy number variation identifies specific genes associated with developmental delay(2014)744 cited
- → Evidence for 28 genetic disorders discovered by combining healthcare and research data(2020)646 cited
- → Diagnostic Genome Profiling in Mental Retardation(2005)604 cited
- → A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism(2006)470 cited
- → Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability(2016)460 cited
- → Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome